Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities

Neurofibromatosis 2 (NF2) features bilateral vestibular schwannomas, other benign neural tumors, and cataracts. Patients in some families develop many tumors at an early age and have rapid clinical progression, whereas in other families, patients may not have symptoms until much later and vestibular schwannomas may be the only tumors. The NF2 gene has been cloned from chromosome 22q; most identified germ-line mutations result in a truncated protein and severe NF2. To look for additional mutations and clinical correlations, we used SSCP analysis to screen DNA from 32 unrelated patients. We identified 20 different mutations in 21 patients (66%): 10 nonsense mutations, 2 frameshifts, 7 splice-site mutations, and 1 large in-frame deletion. Clinical information on 47 patients from the 21 families included ages at onset and at diagnosis, numbers of meningiomas, spinal and skin tumors, and presence of cataracts and retinal abnormalities. We compared clinical findings in patients with nonsense or frameshift mutations to those with splice-site mutations. When each patient was considered as an independent random event, the two groups differed (P < or = .05) for nearly every variable. Patients with nonsense or frameshift mutations were younger at onset and at diagnosis and had a higher frequency and mean number of tumors, supporting the correlation between nonsense and frameshift mutations and severe NF2. When each family was considered as an independent random event, statistically significant differences between the two groups were observed only for mean ages at onset and at diagnosis. A larger data set is needed to resolve these discrepancies. We observed retinal hamartomas and/or epiretinal membranes in nine patients from five families with four different nonsense mutations. This finding, which may represent a new genotype-phenotype correlation, merits further study.     

Eggplant polyphenol oxidase: Purification,characterisation and properties

The isolation and purification of polyphenol oxidase from purple eggplant (Solanum melongena L.) is described. A 15-fold purified preparation has been obtained with 15% yield by a procedure involving (NH₄)₂SO₄ precipitation, DEAE cellulose chromatography and Sephadex G 100 gel filtration.The enzyme has an optimum pH of 6·4 and a molecular weight of 79 000 ± 5000.Inhibition studies with sodium diethyl dithiocarbamate and potassium cyanide and dialysis against the latter show that the enzyme requires copper.Eggplant polyphenol oxidase exhibits only a catecholase activity and presents a great affinity for catechol and caffeic acid. This latter compound is no doubt its natural substrate.These results show that conversely to tomato, where a polyphenol oxidase activity was tightly bound to the peroxidase, in the case of eggplant there is a true polyphenol oxidase enzyme.     

Melting behavior of solid polymers on a metal surface at processing conditions

The melting or plasticating behavior of seven commercial polymers (high density polyethylene, low density polyethylene, polypropylene, polyoxymethylene copolymer, polystyrene, poly(methyl methacrylate), and polycarbonate (PC) was investigated using an experimental apparatus specifically designed to measure the melting rate and the viscous shear stress of a solid polymer on a steel surface under precisely controlled conditions of temperature, velocity, pressure and sample width comparable to actual processing. The melting rate (per unit polymer solid/metal contact area) was found to increase with increasing temperature for all polymers except PC, to decrease with increasing sample width and to increase less than proportionally to velocity. Pressure increased the melting rate somewhat for most of the polymers. The viscous shear stress decreased with increasing temperature for all polymers except PC, decreased with increasing sample width and increased with increasing velocity. Pressure generally increased the viscous shear stress. PC showed an unusual behavior with a maximum in the melting rate near 4200°F(215.5°C) and also a maximum in the viscous shear stress near 445°F (229.4°C). The present melting model could be examined unequivocally for the first time using our experimental results. Comparison of our experimental results with the predictions of the present melting model clearly indicates the inadequacy of the present melting model, Our experimental results will provide a basis for rational development of a reliable melting model.     

Patterns of self-disclosure in psychotherapy and marriage.

This study compared patterns of self-disclosure in psychotherapy and marriage. Participants (48 married, current psychotherapy patients, mean age = 42) completed a 101-item Disclosure to Therapist Inventory and a companion measure, a 101-item Disclosure to Spouse Inventory. Results indicated a pattern of greater disclosure to one's therapist in regard to issues involving despair (e.g., feelings of depression), and to one's spouse in regard to procreation and body concerns (e.g., birth control) and values (e.g., feelings about religion, race, or politics). Issues involving sex were infrequently discussed in either context. Discrepancy scores (differences between extent of disclosure and perceived importance) were greater in the spouse condition. Outcome predictors varied by situation, with overall disclosure predicting therapeutic outcome and both overall disclosure and discrepancy scores predicting marital satisfaction. Findings suggest that although there is substantial overlap in issues discussed in these two contexts, certain intimate disclosures are perceived as situation-specific. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Genetic and environmental influences on interpersonal cognitions and associations with depressive symptoms in 8-year-old twins.

Less is known about depression in children than in adults. This study integrates fields by combining cognitive and interpersonal research investigating childhood depression symptoms through the use of a genetic framework. Three research questions are addressed. First, what are the associations among interpersonal cognitions, anxiety, and depression? Second, what are the relative magnitudes of genetic and environmental influences on interpersonal cognitions? Third, to what extent do genetic and environmental influences explain associations between interpersonal cognitions and depression? Three hundred pairs of 8-year-old twins reported on symptoms of depression and anxiety by completing the Children's Depression Inventory and the Screen for Childhood Anxiety-Related Emotional Disorders. The authors examined interpersonal cognitions with the Children's Expectation of Social Behaviors and the Perceptions of Peers and Self Questionnaires. Interpersonal cognitions were more strongly correlated with depression (mean r = .35) than with anxiety (mean r = .13). Genetic influence on interpersonal cognitions was small (M = 3%), and associations between interpersonal cognitions and depression were mainly explained by environmental influences. These latter findings may result from interpersonal cognitions in young children, reflecting life experiences as opposed to trait-like cognitive biases. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Natural versus wastewater derived dissolved organic carbon: implications for the environmental fate of organic micropollutants

The interaction of organic micropollutants with dissolved organic carbon (DOC) can influence their transport, degradation and bioavailability. While this has been well established for natural organic carbon, very little is known regarding the influence of DOC on the fate of micropollutants during wastewater treatment and water recycling. Dissolved organic carbon-water partition coefficients (K_DOC) for wastewater derived and reference DOC were measured for a range of micropollutants using a depletion method with polydimethylsiloxane disks. For micropollutants with an octanol-water partition coefficient (log K_OW) greater than 4 there was a significant difference in K_DOC between reference and wastewater derived DOC, with partitioning to wastewater derived DOC over 1000 times lower for the most hydrophobic micropollutants. The interaction of nonylphenol with wastewater derived DOC from different stages of a wastewater and advanced water treatment train was studied, but little difference in K_DOC was observed. Organic carbon characterisation revealed that reference and wastewater derived DOC had very different properties due to their different origins. Consequently, the reduced sorption capacity of wastewater derived DOC may be related to their microbial origin which led to reduced aromaticity and lower molecular weight. This study suggests that for hydrophobic micropollutants (log K_OW > 4) a higher concentration of freely dissolved and thus bioavailable micropollutants is expected in the presence of wastewater derived DOC than predicted using K_DOC values quantified using reference DOC. The implication is that naturally derived DOC may not be an appropriate surrogate for wastewater derived DOC as a matrix for assessing the fate of micropollutants in engineered systems.     

Thermal expansion measurements of high-temperature carbon/carbon materials from room temperature to 3000 K

The thermal expansion of carbon/carbon material has been measured to 3000 K using a variety of methods. Coupon samples have been measured in a directview dilatometer and an automatic recording dilatometer. Cylindrical or hoop samples, 5 to 50 cm in diameter, have been measured by a fiber-wrap technique. The direct-view or, as it is sometimes referred to, the twintelemicroscope method is generally used when good accuracy is required for measurements to elevated temperatures. The change in length is observed with the use of telemicroscopes aligned on fiducial marks machined on opposite ends of the specimen. An Apple IIe computer controls the automatic recording dilatometer and also provides an output to an X-Y recorder, giving a continuous curve of thermal expansion percentage versus temperature through the range from RT to 300 K. Circumferential thermal expansion is defined as the change in circumference per unit of initial circumference. The change in the circumference of the hoop is measured by wrapping the hoop with a graphite yarn and measuring the change in length with a linear variable differential transformer.Paper presented at the Ninth International Thermal Expansion Symposium, December 8–10, 1986, Pittsburgh, Pennsylvania, U.S.A.     

Consumption effects of electricity decarbonization: Evidence from California and the Pacific Northwest

This paper estimates the price-induced impacts of decarbonization policy on CO₂ emissions in California and the Pacific Northwest. We document that retail demands for electricity and natural gas by customer class are highly price-inelastic. Based on the heat rates of natural-gas-fired generation, we find that a 10% electricity rate increase due to electricity decarbonization may not have the consumption effects of further reducing the region’s CO₂ emissions.